Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 2 | Role of CD79A mutations in BL requires confirmation | |
| 2 | Role of CD79A mutations in MZL requires confirmation |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
| Entity | Collection | N | mutated | Incidence | 95% CI |
|---|---|---|---|---|---|
| DLBCL | GAMBL without Reddy | 1,089 | 19 | 0.0174 | [0.0097,0.0252] |
| DLBCL | GAMBL with Reddy | 2,088 | 38 | 0.0182 | [0.0125,0.0239] |
| DLBCL | BC | 231 | 4 | 0.0173 | [5e-04,0.0341] |
| DLBCL | Dana-Farber | 303 | 2 | 0.0066 | [0,0.0157] |
| DLBCL | NCI | 470 | 12 | 0.0255 | [0.0113,0.0398] |
| DLBCL | Reddy | 999 | 19 | 0.0190 | [0.0105,0.0275] |
| DLBCL | DLBCL_ICGC | 85 | 1 | 0.0118 | [0,0.0347] |
FL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| FL | GAMBL without Crouch | 642 | 9 | 0.0140 | [0.0049,0.0231] |
| FL | GAMBL with Crouch | 1,189 | 35 | 0.0294 | [0.0198,0.039] |
| FL | BC | 379 | 7 | 0.0185 | [0.0049,0.032] |
| FL | Kalmbach | 164 | 1 | 0.0061 | [0,0.018] |
| FL | Crouch | 547 | 26 | 0.0475 | [0.0297,0.0654] |
| FL | FL_ICGC | 99 | 1 | 0.0101 | [0,0.0298] |
BL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| BL | GAMBL without Panea | 309 | 0 | 0 | [0,0] |
| BL | GAMBL without ICGC/Zhou | 320 | 0 | 0 | [0,0] |
| BL | GAMBL with Panea | 410 | 0 | 0 | [0,0] |
| BL | BLGSP | 219 | 0 | 0 | [0,0] |
| BL | Zhou/ICGC | 90 | 0 | 0 | [0,0] |
| BL | Panea | 101 | 0 | 0 | [0,0] |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 0.0000 | 0 | 1.0000 |
| FL | 3.4605 | 0 | 0.6590 |
| DLBCL | 0.0000 | 0 | 0.9986 |
CD79A Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr19 | 42384963 | T>A | Y199* |
| chr19 | 42384963 | T>G | Y199* |
Visualizations
Protein
View coding variants in ProteinPaint hg19 or hg38
Genome
View all variants in GenomePaint hg19 or hg38
Expression
History
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
title Publication timing
2012-08-27 : Rossi : MZL
2022-07-06 : Burkhardt : BL
References
1.
Burkhardt B, Michgehl U, Rohde J, Erdmann T,
Berning P, Reutter K, Rohde M, Borkhardt A, Burmeister T, Dave S,
Tzankov A, Dugas M, Sandmann S, Fend F, Finger J, Mueller S, Gökbuget N,
Haferlach T, Kern W, Hartmann W, Klapper W, Oschlies I, Richter J,
Kontny U, Lutz M, Maecker-Kolhoff B, Ott G, Rosenwald A, Siebert R, von
Stackelberg A, Strahm B, Woessmann W, Zimmermann M, Zapukhlyak M, Grau
M, Lenz G. Clinical relevance of molecular characteristics in
Burkitt lymphoma differs according to age. Nat Commun. 2022
Jul 6;13(1):3881. PMCID: PMC9259584
2.
Rossi D, Trifonov V, Fangazio M, Bruscaggin A,
Rasi S, Spina V, Monti S, Vaisitti T, Arruga F, Famà R, Ciardullo C,
Greco M, Cresta S, Piranda D, Holmes A, Fabbri G, Messina M, Rinaldi A,
Wang J, Agostinelli C, Piccaluga PP, Lucioni M, Tabbò F, Serra R,
Franceschetti S, Deambrogi C, Daniele G, Gattei V, Marasca R, Facchetti
F, Arcaini L, Inghirami G, Bertoni F, Pileri SA, Deaglio S, Foà R,
Dalla-Favera R, Pasqualucci L, Rabadan R, Gaidano G. The coding genome
of splenic marginal zone lymphoma: Activation of NOTCH2 and
other pathways regulating marginal zone development. J Exp Med. 2012 Aug
27;209(9):1537–1551. PMCID: PMC3428941


